Rare Diseases

Current bibliography for experts

"Registry" search results...

FABRY

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

2022-06-20

This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

2022-02-14

The collection of on-going large-scale Niemann-Pick Disease Type C (NPC) clinical data may generate better understandings of the natural history of the disease. This study reports NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

2021-12-20

This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

GAUCHER

GRAF score: A composite risk score for assessing adult fracture risk in imiglucerase‑treated Gaucher disease type 1 patients

2021-02-18

The aim of this study was to create a risk score assessment GRAF as a clinical tool for determining risk for future fractures beyond standard risk factors that change with time and treatment in Gaucher disease type 1 patients. The GRAF score can be used to inform clinicians about the potential fracture risk after starting imiglucerase or other alternative ERTs.

GAUCHER

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

2021-02-01

This study reports hematologic, visceral, bone pain, bone crisis, height, weight, and BMI outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. As a result, imiglucerase is found as an effective, long-term treatment for GD1. Improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients.

FABRY

A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup

2020-08-01

This study aimed to find a consensus phenotypic classification for previously unclassified GLA variants by using the GLA-specific fabry-database.org database. Clinical pathogenicity associated with a particular GLA variant defined in affected males appears to have predictive value and also generally correlates with risk for affected females. The newly developed classifications can aid in the clinical management of Fabry patients who have these variants.

POMPE

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

2019-11-01

This study reports the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry. These data provide new information about the distribution of GAA variants globally and across the clinical spectrum, provide a first indication of the severity of novel variants, and assist in diagnostic practice and outcome prediction.

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